Science Advances

Supplementary Materials

The PDF file includes:

  • Supplementary Methods
  • Fig. S1. Expression of 14q32.2 MEGs and 11p15.5 and 15q11-q13 PEGs in five different passages of cultured fibroblasts from TS14 patients.
  • Fig. S2. Schematic representation of the subcloned transcripts of MEG8 (MEG8a and MEG8b).
  • Fig. S3. Distribution of minor allele frequency according to combined exome and RNA-seq data for fibroblasts from the TS14-1, TS14-2, and SRS/TS14 patients.
  • Fig. S4. Schematic representation of the four putative imprinted loci identified on the basis of allele-specific gene expression and DMRs.
  • Fig. S5. Schematic representation of the molecular findings and the hypothesized mechanism from this study.
  • Table S1. Methylation levels for all patients and controls, as determined by ASMM RT-qPCR.
  • Table S2. Clinical features for TS14 patients with imprinting defects at the DLK1/MEG3 domain described here.
  • Table S3. The allelic status of imprinted genes, as determined by RNA and exome sequencing for TS14 and control fibroblasts.
  • Table S4. List of all genes with monoallelic expression, as determined by RNA and exome sequencing in TS14 patients.
  • Table S5. List and sequences of the primers used in this study.
  • References (3740)

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Other Supplementary Material for this manuscript includes the following:

  • Data file S1 (Microsoft Excel format). List of all gene FPKMs for each patient and control.
  • Data file S2 (Microsoft Excel format). Supervised study of DEGs for each group of patients compared to controls.

Files in this Data Supplement: